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Sampath Paththinige
Sampath Paththinige
Professor, Clinical Geneticist, Faculty of Medicine and Allied Sciences, Rajarata University
Email verificata su med.rjt.ac.lk
Titolo
Citata da
Citata da
Anno
22q11. 2 deletion syndrome in diverse populations
P Kruszka, YA Addissie, DE McGinn, AR Porras, E Biggs, M Share, ...
American Journal of Medical Genetics Part A 173 (4), 879-888, 2017
1392017
Genetic determinants of inherited susceptibility to hypercholesterolemia–a comprehensive literature review
CS Paththinige, ND Sirisena, VHW Dissanayake
Lipids in health and disease 16, 1-22, 2017
1292017
Down syndrome in diverse populations
P Kruszka, AR Porras, AK Sobering, FA Ikolo, S La Qua, V Shotelersuk, ...
American Journal of Medical Genetics Part A 173 (1), 42-53, 2017
1062017
Noonan syndrome in diverse populations
P Kruszka, AR Porras, YA Addissie, A Moresco, S Medrano, GTK Mok, ...
American Journal of Medical Genetics Part A 173 (9), 2323-2334, 2017
892017
Population Screening for Hemoglobinopathies
HW Goonasekera, CS Paththinige, VHW Dissanayake
Annual review of genomics and human genetics, 2018
772018
Williams–Beuren syndrome in diverse populations
P Kruszka, AR Porras, DH De Souza, A Moresco, V Huckstadt, AD Gill, ...
American Journal of Medical Genetics Part A 176 (5), 1128-1136, 2018
752018
Pregnancy outcomes and contraceptive use in patients with systemic lupus Erythematosus, rheumatoid arthritis and women without a chronic illness: a comparative study
P Galappatthy, JDD Jayasinghe, SC Paththinige, RMH Sheriff, ...
International Journal of Rheumatic Diseases 20 (6), 746-754, 2017
252017
Turner syndrome in diverse populations
P Kruszka, YA Addissie, C Tekendo‐Ngongang, KL Jones, SK Savage, ...
American Journal of Medical Genetics Part A 182 (2), 303-313, 2020
242020
Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia – a preliminary report
CS Paththinige, J Rajapakse, GR Constantine, KP Sem, RR Singaraja, ...
Lipids in health and disease 17, 1-7, 2018
202018
Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature
CS Paththinige, ND Sirisena, F Escande, S Manouvrier, F Petit, ...
BMC Medical Genetics 20, 1-7, 2019
152019
The frequency and spectrum of chromosomal translocations in a cohort of Sri Lankans
CS Paththinige, ND Sirisena, U Kariyawasam, VHW Dissanayake
BioMed Research International 2019, 2019
102019
Partial trisomy 16q21➔ qter due to an unbalanced segregation of a maternally inherited balanced translocation 46, XX, t (15; 16)(p13; q21): a case report and review of literature
R Mishra, CS Paththinige, ND Sirisena, S Nanayakkara, U Kariyawasam, ...
BMC pediatrics 18, 1-7, 2018
92018
A child with multiple congenital anomalies due to partial trisomy 7q22. 1→ qter resulting from a maternally inherited balanced translocation: a case report and review of …
CS Paththinige, ND Sirisena, U Kariyawasam, RC Ediriweera, P Kruszka, ...
BMC Medical Genomics 11, 1-10, 2018
82018
A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report
ND Sirisena, UMJE Samaranayake, OLA Neto, AR Foley, BAPS Pathirana, ...
BMC neurology 21, 1-7, 2021
72021
Ring chromosome 4 in a child with multiple congenital abnormalities: a case report and review of the literature
CS Paththinige, ND Sirisena, U Kariyawasam, LPC Saman Kumara, ...
Case Reports in Genetics 2016, 2016
72016
Knowledge, awareness and perception regarding physiotherapy services among clinical students in Rajarata University
D Senarath, AA Sandamali, W Wijekoon, I Ilangarathne, S Ranaweera, ...
Sri Lanka Anatomy Journal 3 (2), 2019
22019
The frequency and phenotypic spectrum of cytogenetic abnormalities in Sri Lankan children.
CS Paththinige, UND Sirisena, U Kariyawasam, VHW Dissanayake
The 6th Global Congress for Consensus in Paediatrics and Child Health, CIP …, 2017
22017
Cover Image, Volume 173A, Number 9, September 2017
P Kruszka, AR Porras, YA Addissie, A Moresco, S Medrano, GTK Mok, ...
American Journal of Medical Genetics Part A 173 (9), i-i, 2017
12017
Blended learning in human anatomy education in undergraduate medical programmes: A review
CS Paththinige, KN Marambe
Sri Lanka Anatomy Journal 7 (1), 2023
2023
Outstation state medical faculties in Sri Lanka: nobody’s children when it comes to sustainability!
A Silva, K Weerakoon, J Pushpakumara, S Paththinige
Anuradhapura Medical Journal 17 (2), 2023
2023
Il sistema al momento non può eseguire l'operazione. Riprova più tardi.
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